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View this article online at: patient.info/health/klinefelters-syndrome-leaflet
Klinefelter's Syndrome
Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X
chromosome.
Males with Klinefelter's syndrome have small testicles (testes) which do not produce enough of the
male hormone testosterone before birth and during puberty. This lack of testosterone means that
during puberty, the normal male sexual characteristics do not develop fully. There is reduced facial
and pubic hair, and some breast tissue often develops. The lack of testosterone is also responsible
for other symptoms, including infertility.
Treatment includes testosterone replacement. This can help improve some of the symptoms but does
not have an effect on fertility. The majority of men with Klinefelter's syndrome lead an independent
life, forming relationships and getting a normal job. They also have a normal lifespan.
What is Klinefelter's syndrome (KS)?
In general, each cell in your body contains 46 chromosomes arranged in 23 pairs. One chromosome from each
pair is inherited from your mother and the other is inherited from your father. One of these chromosome pairs is
known as the sex chromosomes because this pair of chromosomes determines our sex.
Females have two of the same kind of sex chromosome (XX). Males have two different sex chromosomes (XY).
The Y chromosome contains the male determining genes. So a female normally has 46, XX chromosomes and a
male normally has 46, XY.
In KS, males have an extra X chromosome. It is a genetic problem that only affects boys and men. It is a sex
chromosome trisomy. Instead of being 46, XY, men or boys with KS are usually 47, XXY.
Dr Harry F. Klinefelter first described this syndrome in the USA in 1942. The condition affects sexual
development. Males with KS have small testicles (testes) which do not produce enough of the male hormone
testosterone before birth and during puberty. This lack of testosterone means that during puberty, the normal
male sexual characteristics do not develop fully. There is reduced facial and pubic hair, and some breast tissue
may develop. The lack of testosterone is also responsible for some of the other symptoms (see below), including
infertility.
In most cases, KS develops because there is an extra copy of the X chromosome in each of a male's cells (47,
XXY). Because there are extra X chromosome genes, this interferes with male sexual development. The testes
don't work normally and they produce lower levels of testosterone.
However, some males with KS only have the extra X chromosome in some of their cells. This is known as
mosaic Klinfelter's syndrome. If you have mosaic KS, you may be more mildly affected, depending on how many
cells have an extra X chromosome. About 1 in 10 males with KS have mosaic KS. They are 46, XY; 47, XXY.
Rarely, males with KS can have several extra copies of the X chromosome or extra copies of both the X and Y
chromosomes in all their body's cells. For example, they can be 48,XXYY, 48,XXXY, 49,XXXYY, and 49,XXXXY.
These variants are rare. However, if one does happen, males tend to have more severe symptoms.
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What causes Klinefelter's syndrome (KS)?
KS is a genetic condition but it is not 'inherited' from your parents. It usually happens randomly during meiosis.
Meiosis is cell division which produces egg and sperm cells (reproductive cells). Because of an error in cell
division called nondisjunction, an egg or a sperm cell can have an extra copy of an X chromosome. This means
that when it meets a 'normal' egg or sperm at conception, the embryo produced (which will go on to develop into
the baby) will have one extra copy of the X chromosome in each of their body's cells. This is known as a sex
chromosome trisomy (there are three sex chromosomes in the body's cells instead of two).
Mosaic KS also occurs randomly and is not 'inherited'. During early development in the womb (uterus), there is a
problem with cell division. This means that some of the body's cells have one X chromosome and one Y
chromosome (46, XY), and other cells have an extra copy of the X chromosome (47, XXY).
It is thought that mothers or fathers who are at an older age may be more likely to have a child with KS.
How common is Klinefelter's syndrome (KS)?
Between 1 in 500 and 1 in 1,000 boys are born with KS.
What are the symptoms of Klinefelter's syndrome (KS)?
KS is usually not noticed until you go through puberty. Puberty may be late or incomplete if you have KS.
Sometimes the condition may only be diagnosed if you are investigated for infertility as an adult.
The typical features of KS in an adult are:
Small testicles (testes).
Decreased facial hair compared to a usual male.
Some breast tissue development (gynaecomastia).
Decreased pubic hair compared to a usual male.
A tall, thin body with disproportionately long arms and legs.
Obesity - this may cause a thicker waistline but it is often partially disguised by wider-than-normal
hips.
Children and adolescents with KS may also have:
A delay in the age of first walking.
A condition which causes co-ordination problems (dyspraxia).
Speech and language delay or difficulties.
Attention problems.
Mild learning disabilities.
A condition which causes problems with reading, writing or spelling (dyslexia).
Behavioural problems - boys tend to be shy and have low self-confidence; they may appear to be
immature when compared to their peers.
In adulthood, in addition to the main typical features:
You may also have problems getting an erection and have a low sex drive (libido).
Anxiety and depression may be a problem.
'Thinning' of the bones (osteoporosis) may develop in young or middle age rather than the usual older
age for this condition.
You may also be less muscular than other men.
Most men who are 47, XXY have normal intelligence. However, your intelligence may be affected if you
have a higher number of X chromosomes.
Almost all men who are 47, XXY will be infertile.
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How is Klinefelter's syndrome (KS) diagnosed?
KS is often diagnosed when a man is being investigated for infertility. The diagnosis can be confirmed by a test
called a karyotype. A blood sample is taken from the man and the chromosomes are studied. This test can show
the extra X chromosome.
Sometimes KS is diagnosed in an unborn baby boy during antenatal screening carried out for another reason. If,
for example, screening tests have shown an increased risk of Down's syndrome, the mother may go on to have
a further test called an amniocentesis. In this test, a sample is taken from the amniotic fluid around the baby in
the womb (uterus). A karyotype test can then be done in the sample and can show if the baby has KS.
KS may also be diagnosed at the time of puberty. Puberty may be delayed or noticed as abnormal. A doctor may
notice signs of KS when they examine you; for example, if your testicles (testes) are small, or if you have breast
tissue development (gynaecomastia) or reduced pubic hair for your age. Your doctor may then suggest a
karyotype blood test.
Other blood tests may also be done if your doctor suspects that you may have KS. These include hormone blood
tests. For example, if you have KS, towards the end of puberty and in adulthood your levels of testosterone in
your blood will be low.
What is the treatment for Klinefelter's syndrome (KS)?
If you have KS, you will usually be referred to a hormone specialist (an endocrinologist).
Testosterone replacement
The main treatment for KS is with testosterone to boost the low levels. Ideally, testosterone replacement should
begin at puberty and is needed lifelong. Testosterone can help to:
Increase your strength and build a more muscular body type.
Increase facial and pubic hair growth.
Increase your libido (sex drive).
Enlarge your testes.
Improve your mood and self-esteem.
Protect against 'thin bones' (osteoporosis).
However, testosterone treatment does not have any affect on your fertility. It also has little effect on breast tissue
development (gynaecomastia).
Treatment for gynaecomastia
Gynaecomastia can be a troubling problem for males with KS. Sometimes men choose to have surgery to
remove the breast tissue.
Infertility treatment
If you have KS and you are considering having children, you will need to see an infertility specialist. There have
been great developments in the treatment of infertility over recent years and there have been cases of men with
KS fathering children. Also, men with KS mosaicism (46,XY/47,XXY) can be fertile.
Investigation will show if you have any viable sperm in your testes. If this is the case, the sperm may be able to be
extracted from your testes. The sperm may then used for in vitro fertilisation (IVF) or intra-cytoplasmic sperm
injection (ICSI). ICSI involves an individual sperm being injected directly into an egg. The egg containing the
sperm is then placed in the womb in the same way as with IVF. See separate leaflet called Infertility - a Summary
of Treatments for more details.
However, you should first see a genetic counsellor. This is because the exact risk of someone with KS having a
child with KS or another chromosomal problem is unknown, but it appears to be low.
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Other treatments
Other treatments for KS may include, for example, speech and language therapy and behavioural therapy in
children (if required). Physiotherapy and occupational therapy are also sometimes needed.
What are the complications of Klinefelter's syndrome (KS)?
Males with KS may have an increased risk of certain conditions including:
Cardiovascular disease - this is due to increased cholesterol levels which may occur and the risk can
be reduced with testosterone treatment.
'Thinning' of the bones (osteoporosis) - low levels of testosterone increase the risk of developing
osteoporosis. If you have KS you should have regular bone density screening tests.
Breast cancer - the risk of developing breast cancer is about 20 times higher than in otherwise healthy
men. If you have KS, you should regularly examine your breast area and see your doctor if you notice
any lumps or have any concerns.
Thromboembolism - men with KS have an increased risk of deep vein thrombosis and blood clots in
blood vessels (pulmonary embolism).
Autoimmune diseases - these include systemic lupus erythematosus, rheumatoid arthritis and
Sjögren's syndrome.
Diabetes - this is also more common if you have KS.
What is the outlook (prognosis) for Klinefelter's syndrome (KS)?
Sometimes boys with KS may struggle through adolescence. They may have difficulties at school, many
frustrations and, occasionally, may have serious emotional or behavioural difficulties.
However, the majority of men with KS go on to lead an independent life, forming relationships and getting a
normal job. Men with KS usually have a normal lifespan.
Further help & information
Klinefelter's Syndrome Association
56 Little Yeldham Road, Little Yeldham, Halstead, Essex, CO9 4QT
Tel: 0300 111 4748
Web: www.ksa-uk.net
Further reading & references
Bruining H, Swaab H, Kas M, et al; Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome.
Pediatrics. 2009 May;123(5):e865-70. Epub 2009 Apr 13.
Klinefelter syndrome; Genetics Home Reference, 2008
Blevins CH, Wilson ME; Klinefelter's syndrome. BMJ. 2012 Dec 3;345:e7558. doi: 10.1136/bmj.e7558.
Paduch DA, Fine RG, BolyakovA, et al; New concepts in Klinefelter syndrome. Curr Opin Urol. 2008 Nov;18(6):621-7. doi:
10.1097/MOU.0b013e32831367c7.
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical
conditions. EMIS has used all reasonable care in compiling the information but makes no warranty as to its
accuracy. Consult a doctor or other healthcare professional for diagnosis and treatment of medical conditions.
For details see our conditions.
Original Author:
Dr Tim Kenny
Current Version:
Dr Roger Henderson
Peer Reviewer:
Dr Adrian Bonsall
Document ID:
12403 (v3)
Last Checked:
23/12/2015
Next Review:
22/12/2018
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